Know the basics

What is albinism?

Albinism is defined to be an inherited disorders characterized by the complete or incomplete reduce of melanin production – the pigment determining the color of skin, hair and eyes. As a result, people with albinism have a light-color or no-color hair, skin or eyes. These visual difference make them socially isolated or suffer discrimination. Most of them also are sensitive to sun exposure and are at increased risk of developing skin cancer.

Actually, there’s no cure for albinism but people with the disorder can take steps to protect their skin and maximize their vision.

How common is albinism?

Albinism is relatively common. It can affect patients at any age. It can be managed by reducing your risk factors. Please discuss with your doctor for further information.

Know the symptoms

What are the symptoms of albinism?

The common symptoms of albinism are:

Skin: because of pigment problem, people with albinism may have a skin color ranging from white to brown, and may be nearly the same as that of parents or siblings without albinism.

Freckles;

Moles, with or without pigment — moles without pigment are generally pink-colored;

Large freckle-like spots (lentigines);

Inability to tan;

Hair: because of pigment problem, people with albinism may have a hair color ranging from very white to brown. Hair color may also darken by early adulthood.

Eye color: because of pigment problem, people with albinism may have an eye color ranging from very light blue to brown and may change with age.

Know the causes

What causes albinism?

OCA1: is caused by an inadequacy in the tyrosinase enzyme that can make people have white haire, pale skin and light eyes for subtype OCA 1a or have a light-colored skin, hair and eyes for subtype OCA 1b.

OCA2: is caused by an inadequacy in OCA 2 gene causing a reduced melanin production. People with OCA 2 have innately a light coloring eyes and skin; yellow, blond or light brown hair.

OCA3: is caused by an inadequacy in TYRP gene that make people with OCA 3 have reddish-brown skin, reddish hair, and hazel or brown eyes.

OCA4: is caused by an inadequacy in the SLC45A2 protein causing similar symptoms to OCA2.

Ocular Albinism (OA): is caused by a gene mutation on the X chromosome and occurs almost exclusively in males. People with OA may have normal hair, skin, and eye coloring, but have no coloring in the retina.

Other rare syndromes:

Hermansky-Pudlak Syndrome (HPS): is caused by an indequacy in one of eight gene, causing symptoms similar to OCA, and occurs with lung, bowel, and bleeding disorders.

Chediak-Higashi Syndrome: is caused by an indequacy in the LYST gene, causing symptoms similar to OCA. People with Chediak-Higashi Syndrome can have brown or blond haire, cremy white to grayish skin and a defect in the white blood cells.

Griscelli Syndrome (GS): is caused by an indequacy in one of three genes. GS occurs with albinism, immune problems, and neurological problems. GS usually results in death within the first decade of life.

Know the risk factors

What increases my risk for albinism?

Albinism is a genetic condition. If someone in your family has albinism, you are at a higher risk for this condition.

Understand the diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is albinism diagnosed?

A complete diagnostic for albinism includes:

Physical exam;

Description of changes in pigmentation;

Thorough exam of the eyes: to evaluate the situation of potential nystagmus, strabismus and photophobia and to measure the brain waves produced when light or a reversing pattern is flashed into each eye;

Comparison of your child’s pigmentation to that of other family members;

Genetic testing: to detect defective genes related to albinism.

How is albinism treated?

There is no cure for albinism. Treatment for albinism can relieve symptoms and prevent sun damage. Treatment may include: